You are not alone. Here is where to start: learn the basics, find a specialist or center that sees Freeman-Sheldon syndrome, look for clinical trials, and connect with others living with it — all in one place.
Open the full Freeman-Sheldon syndrome hub →Freeman-Sheldon syndrome is a rare condition. Also known as Craniocarpotarsal dysplasia, Craniocarpotarsal dystrophy, Distal arthrogryposis type 2A, Freeman-Burian syndrome, Whistling face syndrome. Tomeko brings together the specialists, research, clinical trials, treatments and community for Freeman-Sheldon syndrome so you can go from overwhelmed to oriented. For authoritative medical detail, see the reference sources below.
Identifiers: ORPHA:2053 · OMIM 193700, 277720 · ICD-10 Q87.0 · GARD 0006466
Start by learning the basics from an authoritative source, find a specialist or center that sees Freeman-Sheldon syndrome, and connect with a patient organization. Tomeko brings these together on one hub.
Use Tomeko's specialist and Centers-of-Excellence directories to find clinicians who treat Freeman-Sheldon syndrome, filtered to your area.
Tomeko shows live, recruiting studies for Freeman-Sheldon syndrome from ClinicalTrials.gov on the hub.